Incidental Mutation 'R9704:Tpsb2'
ID |
729725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpsb2
|
Ensembl Gene |
ENSMUSG00000033825 |
Gene Name |
tryptase beta 2 |
Synonyms |
MMCP-6, Mcp6, Mcp-6, Mcpt6 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R9704 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
25585282-25587070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25585834 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 57
(I57M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000063499
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024999]
[ENSMUST00000069616]
[ENSMUST00000160377]
[ENSMUST00000160485]
[ENSMUST00000162021]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024999
|
SMART Domains |
Protein: ENSMUSP00000024999 Gene: ENSMUSG00000033200
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
29 |
257 |
1.06e-87 |
SMART |
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069616
AA Change: I57M
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000063499 Gene: ENSMUSG00000033825 AA Change: I57M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Tryp_SPc
|
31 |
268 |
7.49e-97 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160377
|
SMART Domains |
Protein: ENSMUSP00000124008 Gene: ENSMUSG00000033200
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160485
|
SMART Domains |
Protein: ENSMUSP00000124721 Gene: ENSMUSG00000033200
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162021
|
SMART Domains |
Protein: ENSMUSP00000125180 Gene: ENSMUSG00000033200
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
5 |
111 |
2.35e-4 |
SMART |
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show reduced recruitment of eosinophils to sites of T. spiralis larvae and decreased elimination of larvae in chronically infected skeletal muscle. Mice homozygous for a knock-in allele show a reduced ability to clear K. pneumoniae from their peritoneal cavity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
C |
T |
1: 11,588,913 (GRCm39) |
P110L |
probably damaging |
Het |
Aass |
C |
A |
6: 23,120,887 (GRCm39) |
V126F |
possibly damaging |
Het |
Adamts13 |
G |
T |
2: 26,895,237 (GRCm39) |
Q1109H |
|
Het |
Ccdc57 |
A |
C |
11: 120,764,531 (GRCm39) |
V748G |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,827,387 (GRCm39) |
S31P |
possibly damaging |
Het |
Dnah5 |
C |
G |
15: 28,247,965 (GRCm39) |
P701A |
probably benign |
Het |
Epc1 |
T |
C |
18: 6,440,130 (GRCm39) |
T642A |
probably damaging |
Het |
Fam149a |
G |
A |
8: 45,795,502 (GRCm39) |
R670W |
probably benign |
Het |
Fgfr1 |
A |
G |
8: 26,063,579 (GRCm39) |
D646G |
probably benign |
Het |
Gabrr2 |
G |
A |
4: 33,063,305 (GRCm39) |
V43M |
possibly damaging |
Het |
Gli3 |
T |
A |
13: 15,898,058 (GRCm39) |
C713S |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
Hk3 |
A |
G |
13: 55,160,253 (GRCm39) |
|
probably null |
Het |
Ighv2-9 |
T |
A |
12: 113,842,746 (GRCm39) |
D107V |
possibly damaging |
Het |
Jak2 |
C |
A |
19: 29,275,730 (GRCm39) |
C723* |
probably null |
Het |
Lcor |
T |
C |
19: 41,572,498 (GRCm39) |
S418P |
possibly damaging |
Het |
Lnx1 |
A |
T |
5: 74,780,879 (GRCm39) |
V214E |
probably benign |
Het |
Luzp1 |
T |
A |
4: 136,268,604 (GRCm39) |
S276T |
probably benign |
Het |
Meig1 |
A |
G |
2: 3,410,336 (GRCm39) |
Y55H |
probably damaging |
Het |
Myh2 |
A |
T |
11: 67,071,617 (GRCm39) |
Q478L |
possibly damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nxph2 |
T |
C |
2: 23,289,723 (GRCm39) |
V25A |
probably benign |
Het |
Onecut1 |
G |
A |
9: 74,770,258 (GRCm39) |
G227D |
probably benign |
Het |
Phf2 |
G |
T |
13: 48,959,374 (GRCm39) |
D877E |
unknown |
Het |
Pik3cd |
C |
A |
4: 149,739,839 (GRCm39) |
R548L |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,822,907 (GRCm39) |
E53G |
probably benign |
Het |
Rtel1 |
C |
T |
2: 180,993,905 (GRCm39) |
Q830* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,737,646 (GRCm39) |
Y2219C |
probably damaging |
Het |
Spag11b |
A |
G |
8: 19,191,474 (GRCm39) |
N49S |
probably benign |
Het |
Srd5a1 |
T |
A |
13: 69,743,086 (GRCm39) |
I167F |
probably damaging |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Sv2b |
T |
G |
7: 74,797,420 (GRCm39) |
M325L |
possibly damaging |
Het |
Ttf2 |
T |
C |
3: 100,859,920 (GRCm39) |
E678G |
probably damaging |
Het |
Ulk2 |
A |
G |
11: 61,716,694 (GRCm39) |
F270S |
probably damaging |
Het |
Unc13b |
G |
A |
4: 43,237,102 (GRCm39) |
V603I |
probably benign |
Het |
|
Other mutations in Tpsb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1831:Tpsb2
|
UTSW |
17 |
25,585,494 (GRCm39) |
splice site |
probably null |
|
R2044:Tpsb2
|
UTSW |
17 |
25,586,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R2051:Tpsb2
|
UTSW |
17 |
25,585,539 (GRCm39) |
unclassified |
probably benign |
|
R3889:Tpsb2
|
UTSW |
17 |
25,586,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R4853:Tpsb2
|
UTSW |
17 |
25,585,536 (GRCm39) |
unclassified |
probably benign |
|
R4854:Tpsb2
|
UTSW |
17 |
25,585,536 (GRCm39) |
unclassified |
probably benign |
|
R5986:Tpsb2
|
UTSW |
17 |
25,586,108 (GRCm39) |
missense |
probably benign |
0.25 |
R6211:Tpsb2
|
UTSW |
17 |
25,586,737 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6848:Tpsb2
|
UTSW |
17 |
25,586,802 (GRCm39) |
nonsense |
probably null |
|
R9599:Tpsb2
|
UTSW |
17 |
25,586,077 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGTAAGTTGTCTTGAGCCCTCC -3'
(R):5'- TCATGCTCAGAAGGCTCCAG -3'
Sequencing Primer
(F):5'- CTTCACAGGCCACAGGAATGG -3'
(R):5'- TCAGAAGGCTCCAGTCAGG -3'
|
Posted On |
2022-10-06 |